rs765211108, NGLY1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
NGLY1 deficiency
CUI: C3808991
Disease: NGLY1 deficiency
19 1.000 0.080 3 25729208 frameshift variant ATTG/- delins 1.7E-05 7.0E-06 0.700 1.000 1 2015 2015
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 1.000 0.080 3 25729208 frameshift variant ATTG/- delins 1.7E-05 7.0E-06 0.700 1.000 1 2015 2015
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.080 3 25729208 frameshift variant ATTG/- delins 1.7E-05 7.0E-06 0.700 1.000 1 2015 2015